Journal of current ophthalmology · 2016
Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome.
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Sharifi Mohammad, Namdari Maral
Аннотация
PURPOSE: To report a rare case of encephalocraniocutaneous lipomatosis (ECCL) presented with characteristic multiple organ involvement.
METHODS: A 7-day-old white Iranian girl was referred with ocular, skin and brain abnormalities.
RESULTS: The findings of nevus psiloliparus, eyelid choristoma and intracranial lipoma were consistent with ECCL.
CONCLUSION: Since the skin and ocular manifestations can be easily observed at birth examination, pediatricians and ophthalmologists should be aware of this condition.
METHODS: A 7-day-old white Iranian girl was referred with ocular, skin and brain abnormalities.
RESULTS: The findings of nevus psiloliparus, eyelid choristoma and intracranial lipoma were consistent with ECCL.
CONCLUSION: Since the skin and ocular manifestations can be easily observed at birth examination, pediatricians and ophthalmologists should be aware of this condition.